Matsuo Masafumi, Awano Hiroyuki, Matsumoto Masaaki, Nagai Masashi, Kawaguchi Tatsuya, Zhang Zhujun, Nishio Hisahide
Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan.
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Genes (Basel). 2017 Oct 2;8(10):251. doi: 10.3390/genes8100251.
The Duchenne muscular dystrophy (DMD) gene is one of the largest genes in the human genome. The gene exhibits a complex arrangement of seven alternative promoters, which drive the expression of three full length and four shorter isoforms. Dp116, the second smallest product of the DMD gene, is a Schwann cell-specific isoform encoded by a transcript corresponding to DMD exons 56-79, starting from a promoter/exon S1 within intron 55. The physiological roles of Dp116 are poorly understood, because of its extensive homology with other isoforms and its expression in specific tissues. This review summarizes studies on Dp116, focusing on clinical findings and alternative activation of the upstream translation initiation codon that is predicted to produce Dp118.
杜兴氏肌营养不良症（DMD）基因是人类基因组中最大的基因之一。该基因呈现出由七个可变启动子组成的复杂排列，这些启动子驱动三种全长异构体和四种较短异构体的表达。Dp116是DMD基因第二小的产物，是一种施万细胞特异性异构体，由对应于DMD外显子56 - 79的转录本编码，起始于内含子55内的启动子/外显子S1。由于Dp116与其他异构体具有广泛的同源性且在特定组织中表达，其生理作用尚不清楚。本综述总结了关于Dp116的研究，重点关注临床发现以及预计会产生Dp118的上游翻译起始密码子的可变激活。
